Aliases for ETFDH Gene
External Ids for ETFDH Gene
Previous GeneCards Identifiers for ETFDH Gene
This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
GeneCards Summary for ETFDH Gene
ETFDH (Electron Transfer Flavoprotein Dehydrogenase) is a Protein Coding gene. Diseases associated with ETFDH include Multiple Acyl-Coa Dehydrogenase Deficiency and Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding.
UniProtKB/Swiss-Prot for ETFDH Gene
Accepts electrons from ETF and reduces ubiquinone.